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CONGENITAL MYOPATHIES 1 – NEMALINE: P.18 KBTBD13, NEM6 congenital myopathy: deep muscle phenotyping reveals ring-rods fibers, nuclear clumps, and protein aggregates as new morphologic markers

K. Bouman,B. Küsters,J. De Winter, C. Gllet,E. Van Kleef,L. Eshuis,G. Brochier,A. Madelaine,C. Labasse,C. Boulogne,B. Van Engelen,C. Ottenheijm,M. Olive,N. Romero,N. Voermans,E. Malfatti

Neuromuscular Disorders（2020）

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